Variant report

Variant	rs571118593
Chromosome Location	chr7:96635828-96635829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:96635329-96636305	HepG2	liver:	n/a	n/a
2	EP300	chr7:96635649-96636077	HepG2	liver:	n/a	n/a
3	MAX	chr7:96635278-96636266	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr7:96635449-96636230	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:96635131-96636250	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr7:96635227-96636020	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr7:96635247-96636135	HepG2	liver:	n/a	n/a
9	RAD21	chr7:96635508-96635870	HepG2	liver:	n/a	n/a
10	MAX	chr7:96635287-96636956	HepG2	liver:	n/a	n/a
11	MAX	chr7:96635183-96635857	A549	lung:	n/a	n/a
12	REST	chr7:96635826-96636137	HepG2	liver:	n/a	n/a
13	CTBP2	chr7:96635356-96637298	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr7:96635137-96635948	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr7:96635784-96636016	HepG2	liver:	n/a	n/a
16	ZNF143	chr7:96635637-96636811	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:96634323-96637321	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:96634474-96636384	HepG2	liver:	n/a	n/a
19	CHD1	chr7:96635579-96636197	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr7:96634423-96636395	HepG2	liver:	n/a	chr7:96634808-96634821
21	FOXP2	chr7:96635343-96635831	PFSK-1	brain:	n/a	n/a
22	CHD2	chr7:96635671-96636183	HepG2	liver:	n/a	n/a
23	MAX	chr7:96635326-96636166	ECC-1	luminal epithelium:	n/a	n/a
24	TAF1	chr7:96635101-96635844	H1-neurons	neurons:	n/a	n/a
25	ZNF263	chr7:96634409-96636733	HEK293-T-REx	kidney:	n/a	n/a
26	MXI1	chr7:96633643-96636712	SK-N-SH	brain:	n/a	n/a
27	SIN3A	chr7:96635249-96636204	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:96635443-96635840	HepG2	liver:	n/a	n/a
29	TAF1	chr7:96634199-96635841	H1-neurons	neurons:	n/a	n/a
30	HDAC2	chr7:96635551-96636203	HepG2	liver:	n/a	n/a
31	RAD21	chr7:96635516-96635931	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr7:96635215-96636723	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:96635345-96636077	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr7:96635415-96636308	HepG2	liver:	n/a	n/a
35	YY1	chr7:96635117-96636241	HepG2	liver:	n/a	n/a
36	EP300	chr7:96635097-96635860	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:96635381-96636101	HepG2	liver:	n/a	n/a
38	EP300	chr7:96635528-96636129	HepG2	liver:	n/a	n/a
39	RFX5	chr7:96633626-96636275	SK-N-SH	brain:	n/a	n/a
40	TAF1	chr7:96635302-96635842	ECC-1	luminal epithelium:	n/a	n/a
41	HEY1	chr7:96635367-96636182	HepG2	liver:	n/a	n/a
42	EGR1	chr7:96635397-96636251	H1-hESC	embryonic stem cell:	n/a	n/a
43	BHLHE40	chr7:96635542-96636136	HepG2	liver:	n/a	n/a
44	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
45	MAX	chr7:96635169-96636411	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:96635804-96636086	HepG2	liver:	n/a	n/a
47	RCOR1	chr7:96635507-96636118	HepG2	liver:	n/a	n/a
48	MAZ	chr7:96635476-96636201	HepG2	liver:	n/a	n/a
49	TBP	chr7:96635501-96636092	HepG2	liver:	n/a	n/a
50	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318

Variant related genes	Relation type
DLX6	TF binding region
DLX6-AS1	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3443017	chr7:96634416-96636664	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr7:96633800-96637000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:96634000-96638200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:96634200-96636000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:96634200-96636000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:96634400-96636000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr7:96634400-96636000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:96634400-96636000	Active TSS	HepG2	liver
10	chr7:96634400-96636400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:96634400-96636600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:96634400-96636600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:96634400-96636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:96634400-96637200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:96634400-96638200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
16	chr7:96634600-96636000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:96634600-96636000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:96634600-96636000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:96634600-96636000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:96634600-96636000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:96634600-96636000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:96634600-96636200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:96634600-96636200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:96634600-96636200	Bivalent/Poised TSS	Thymus	Thymus
25	chr7:96634600-96636200	Active TSS	Osteobl	bone
26	chr7:96634600-96636800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:96634800-96636000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:96635000-96636000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:96635000-96636000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:96635000-96636000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr7:96635000-96636000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:96635000-96636000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr7:96635000-96636000	Bivalent/Poised TSS	Esophagus	oesophagus
34	chr7:96635000-96636000	Bivalent/Poised TSS	Placenta	Placenta
35	chr7:96635000-96636000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr7:96635000-96636200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
37	chr7:96635000-96636200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr7:96635000-96636200	Active TSS	Rectal Smooth Muscle	rectum
39	chr7:96635000-96636200	Active TSS	Right Atrium	heart
40	chr7:96635200-96636000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:96635200-96636000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:96635200-96636000	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr7:96635200-96636200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:96635200-96636200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:96635200-96636400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr7:96635400-96636000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:96635400-96636000	Active TSS	Ovary	ovary
48	chr7:96635400-96636200	Active TSS	Aorta	Aorta
49	chr7:96635400-96636600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr7:96635600-96636000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain

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